Search Results - "KOENEKOOP, R"

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis by Ibrahim, M. T., Alarcon-Martinez, T., Lopez, I., Fajardo, N., Chiang, J., Koenekoop, R. K.

“…CRX is a transcription factor required for activating the expression of many photoreceptor-neuron genes. CRX may be mutated in three forms of human blindness;…”
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WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome by Coussa, R G, Otto, E A, Gee, H-Y, Arthurs, P, Ren, H, Lopez, I, Keser, V, Fu, Q, Faingold, R, Khan, A, Schwartzentruber, J, Majewski, J, Hildebrandt, F, Koenekoop, R K

“…Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness. Our purpose was to…”
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Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome by Mikhail, M, Modabber, M, Koenekoop, R K, Braverman, N, Khan, A

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GPR98 mutations cause Usher syndrome type 2 in males by Ebermann, I, Wiesen, M H J, Zrenner, E, Lopez, I, Pigeon, R, Kohl, S, Löwenheim, H, Koenekoop, R K, Bolz, H J

“…Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98…”
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Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications by Garon, M.-L., Dorfman, A. L., Racine, J., Koenekoop, R. K., Little, J. M., Lachapelle, P.

“…Background With progressively brighter stimuli, the amplitude of the b-wave of the human photopic electroretinogram (ERG) first increases to a maximal value (…”
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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population by Yzer, S, van den Born, L I, Schuil, J, Kroes, H Y, van Genderen, M M, Boonstra, F N, van den Helm, B, Brunner, H G, Koenekoop, R K, Cremers, F P M

“…Molecular analysis Venous blood was collected and DNA was extracted using a previously described protocol. 12 DNA was analysed using the highly polymorphic DNA…”
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Genetics of Leber congenital amaurosis by DEN HOLLANDER, AI, ROEPMAN, R, KOENEKOOP, RK, CREMERS, FPM

“…Purpose To give an overview of our current knowledge of the genetic causes of Leber congenital amaurosis (LCA). Methods Current literature on the genetic…”
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Mutational analysis and clinical correlation in Leber congenital amaurosis by Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H.

“…Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth,…”
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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12 by Kerrison, John B., Koenekoop, Robert K., Arnould, Véronique J., Zee, David, Maumenee, Irene H.

“…To describe the clinical features of a large pedigree with autosomal dominant congenital nystagmus linked to chromosome 6p12. In a prospective evaluation of 54…”
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care by Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

“…An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome…”
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A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12 by Kerrison, John B., Arnould, Véronique J., Barmada, M.Michael, Koenekoop, Robert K., Schmeckpeper, Barbara J., Maumenee, Irene H.

“…Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased…”
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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome by Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J

“…Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with…”
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Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis by Koenekoop, R, Pina, A L, Loyer, M, Davidson, J, Robitaille, J, Maumenee, I, Tombran-Tink, J

“…Leber congenital amaurosis (LCA) has been mapped to chromosome 17p13.1. From the candidate genes mapped to this region, thus far, only Retinal Guanylate…”
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Evidence supportive of a functional discrimination between photopic oscillatory potentials as revealed with cone and rod mediated retinopathies by LACHAPELLE, P, ROUSSEAU, S, MCKERRAL, M, BENOIT, J, POLOMENO, R. C, KOENEKOOP, R. K, LITTLE, J. M

“…We report on a family where four of the eleven children presented with reduced visual acuities, a red-green deficit at the Farnsworth-Munsel FM 100-hue test,…”
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis by den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E.J., Zonneveld, Marijke N., Strom, Tim M., Meitinger, Thomas, Brunner, Han G., Hoyng, Carel B., van den Born, L. Ingeborgh, Rohrschneider, Klaus, Cremers, Frans P.M.

“…Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together…”
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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness by Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.

“…Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like…”
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Ocular Findings in a Family With Sotos Syndrome (Cerebral Gigantism) by Koenekoop, Robert K., Rosenbaum, Kenneth N., Traboulsi, Elias I.

“…We examined the ocular features in a two-generation family with Sotos syndrome (cerebral gigantism). Sotos syndrome is characterized by excessive growth in…”
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Author reply by KOENEKOOP, R

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Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa by Collin, Rob W.J., Littink, Karin W., Klevering, B. Jeroen, van den Born, L. Ingeborgh, Koenekoop, Robert K., Zonneveld, Marijke N., Blokland, Ellen A.W., Strom, Tim M., Hoyng, Carel B., den Hollander, Anneke I., Cremers, Frans P.M.

“…In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be…”
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The management of age-related macular degeneration: patterns of referral and compliance in seeking low-vision aids by Koenekoop, R K, Gomolin, J E

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